Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29296980C>G , CM000664.2:g.29296980C>G | GRCh38 |
| NC_000002.11:g.29519846C>G , CM000664.1:g.29519846C>G | GRCh37 |
| NC_000002.10:g.29373350C>G | NCBI36 |
| NG_009445.1:g.629587G>C , LRG_488:g.629587G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.1725G>C MANE Select | NP_004295.2:p.Lys575Asn |
| ENST00000389048.8:c.1725G>C MANE Select | ENSP00000373700.3:p.Lys575Asn |
| NM_004304.4:c.1725G>C | NP_004295.2:p.Lys575Asn |
| ENST00000389048.7:c.1725G>C | ENSP00000373700.3:p.Lys575Asn |
| ENST00000498037.1:n.280G>C | |
| ENST00000618119.4:c.594G>C | ENSP00000482733.1:p.Lys198Asn |
| XR_001738688.2:n.2655G>C |